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Items: 1 to 100 of 393

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
CTSK
Single nucleotide variant
(3 prime UTR variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(3 prime UTR variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(3 prime UTR variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(stop lost)
Pyknodysostosis
GPathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(F326V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
(A324T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(G319C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
(C318Y)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(N316fs)
Deletion
(frameshift variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(R312*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(R312G)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(A311P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(L309P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CTSK
(L309F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(G303fs)
Deletion
(frameshift variant)
not provided
GPathogenic
CTSK
(G303E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
CTSK
(G303R)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GPathogenic
CTSK
(W302*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CTSK
(N301Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CTSK
(E300K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSK
(W298*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
+1 more
GPathogenic
CTSK
Duplication
(splice acceptor variant)
Pyknodysostosis
GLikely pathogenic
CTSK
Single nucleotide variant
(splice acceptor variant)
Pyknodysostosis
GPathogenic
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
Pyknodysostosis
GUncertain significance
CTSK
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
CTSK
(K295T)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GUncertain significance
CTSK
(W292*)
Single nucleotide variant
(nonsense)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Insertion
(inframe_insertion)
not provided
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(Y283H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CTSK
(V278D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
Pyknodysostosis
+1 more
GBenign
CTSK
Variation
(no sequence alteration)
not provided
GBenign
CTSK
(A277V)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GPathogenic/Likely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(H276R)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(H276Y)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GLikely pathogenic
CTSK
(H276fs)
Deletion
(frameshift variant)
Pyknodysostosis
+1 more
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(N273fs)
Deletion
(frameshift variant)
Pyknodysostosis
+1 more
GPathogenic/Likely pathogenic
CTSK
(D272E)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CTSK
(D272N)
Single nucleotide variant
(missense variant)
Pyknodysostosis
+1 more
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(S271N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(D266Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Duplication
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GBenign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CTSK
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CTSK
Single nucleotide variant
(splice donor variant)
Pyknodysostosis
+1 more
GLikely pathogenic
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSK
(S252T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSK
(D250G)
Single nucleotide variant
(missense variant)
Pyknodysostosis
GUncertain significance
CTSK
(I249N)
Single nucleotide variant
(missense variant)
Pyknodysostosis
+1 more
GLikely pathogenic
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